Belmont Hill School
Belmont, MA

Hana Snow
Medical and Population Genetics Program

Discovering the underlying causes of rare genetic diseases remains a challenge for researchers. While common diseases like diabetes and heart disease that affect tens of millions of people each year can be studied through a variety of statistical methods, rare diseases which each affect fewer than 1 in 200,000 people do not have enough patients to leverage these powerful methods. Because of this, it’s necessary to manually look at which alleles are present in the DNA of individuals who present to their doctors with these diseases, and look for patterns by hand. Kachi, along with his partner Karol, were responsible for taking a large dataset of recently updated known health implications for genetic variants from a national database called ClinVar, and using it to search for those known variants in seqr, a web-application used by researchers to aid in diagnosing individuals with rare genetic conditions. By comparing these databases, Kachi identified 79 high-quality variants from families with unsolved medical cases, allowing for at least one previously-unsolved case to be solved. “My favorite part about being a Broadie is how collaborative everyone is,” said Kachi about the program. “Everyone is willing to answer my questions, and I'm not scared to talk to anyone about anything I'm thinking.”